Genomic variant #0000060697

Individual ID 00033786
Chromosome 2
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.21260868G>A
DNA change (hg38) g.21037996G>A
Published as -
ISCN -
DB-ID APOB_000800
Variant remarks -
Reference PubMed: Braenne 2016, Journal: Braenne 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation no
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 8.0E-5 View details
Owner Benedikt Reiz




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
APOB NM_000384.2 ?/. 5 c.499C>T - r.(?) p.(Pro167Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033853 DNA SEQ-NG - - - 1 Benedikt Reiz